Linkage disequilibrium between a marker on the low-density lipoprotein receptor and high cholesterol levels
Please cite as follows: Brink, P. A., Steyn, L. T., Bester, A. J. & Steyn, K. 1986. Linkage disequilibrium between a marker on the low-density lipoprotein receptor and high cholesterol levels. South African Medical Journal, 70:80-82.
The original publication is available at http://www.samj.org.za
We describe the presence of a linkage disequilibrium between high cholesterol levels in Afrikaner individuals and the common allele of the Pvu II restriction fragment polymorphism on the low-density lipoprotein (LDL) receptor gene. The frequencies of the common and the rare allele in a sample of the Afrikaner population were 0,654 and 0,346 (65 individuals) and 0,794 and 0,206 in the hypercholesterolaemic population (34 patients) (P < 0,05). This finding supports other evidence for a founder origin of the high frequency of familial hypercholesterolaemia among Afrikaners.